ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA303624
Gene: ACTA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000181015
RCV000533011
RCV000770644
RCV000779683
ClinVar Variation:
199666
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001604.1:p.Arg39His
CA006825
NM_001613.4:c.116G>A